Молекулярная природа фенилкетонурии в Новосибирской области тема диссертации и автореферата по ВАК РФ 03.00.04, кандидат биологических наук Смагулова, Фатима Олжабаевна

• Смагулова, Фатима Олжабаевна
• кандидат биологических наук
• 2000

Заключение диссертации по теме «Биохимия», Смагулова, Фатима Олжабаевна

выводы

1. Проведено исследование спектра и частот мутаций гена фенилаланингидроксилазы в группе из 34 больных фенилкетонурией Новосибирской области. Методом секвенирования ДНК идентифицировано 10 типов мутаций, приводящих к заменам аминокислот, одна микроделеция, одна мутация сайта сплайсинга. Большинство обнаруженных мутаций (11408\¥, Р28И, 112610,1У812пП, Ю58С>) имеют европейское происхождение.

2. Определена неизвестная ранее нуклеотидная последовательность интрона 7 гена фенилаланингидроксилазы человека. В интронах гена РАН обнаружено 5 неизвестных ранее полиморфных сайтов, являющихся однонуклеотидными заменами, которые могут быть рекомендованы как генетические маркеры для оценки носительства и популяционных исследований.

3. На основании выявленного спектра подобраны простые методы детекции наиболее распространенных из найденных мутаций, которые могут быть рекомендованы для использования в клинико-диагностической практике, в частности КБЬР, ПЦР с введением сайта рестрикции и электрофорез в градиенте денатурирующего агента.

Список литературы диссертационного исследования кандидат биологических наук Смагулова, Фатима Олжабаевна, 2000 год

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